P52L (p.Pro52Leu) variant of SCN5A (Nav1.5)
P52L (p.Pro52Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Uncertain significance
- in LQT3
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available